Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population

OBJECTIVE: Evaluation of the costs, effects and savings of three strategies for female fragile X premutation and full mutation carrier screening in the general population. METHODS: We calculated the costs, effects and savings by using a general model for prenatal, preconceptional, and school carrier screening. Assumptions were based on literature data, expert opinions, prices and tariffs. RESULTS: Prenatal screening will detect most carriers and will lead to the highest number of avoided fragile X syndrome patients. The costs per detected carrier are quite similar for all screening programmes (around USD 45,000). All screening strategies have a favourable cost-savings balance (USD 14 million for prenatal screening, USD 9 million for preconceptional screening and USD 2 million for school screening). CONCLUSIONS: From an economic point of view, there is no obstacle to fragile X screening. The decision to screen or not can (and should) therefore concentrate on discussion of medical, social, psychological and ethical considerations.